IKBKG-related immunodeficiency with or without ectodermal dysplasia

MONDO:0100162

Any recessive immunodeficiency (ID), with or without ectodermal dysplasia (EDA), in which the cause of the disease is mutation in the IKBKG gene. ID/EDA-ID patients, always males, are hemizygous for an IKBKG (NEMO) mutation that preserves residual NF-κB activation (hypomorphic mutations) and may also present with osteopetrosis and lymphoedema (OL-EDA-ID).

Also known as: NEMO related ID/EDA-ID

4 clinical trials for this condition and its sub-types, 0 tagged with IKBKG-related immunodeficiency with or without ectodermal dysplasia itself.

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↑ Immunodeficiency disease (776)

Sub-types of IKBKG-related immunodeficiency with or without ectodermal dysplasia

Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 4 trials
Ectodermal dysplasia and immunodeficiency 1 0 trials
Immunodeficiency 33 0 trials

Including sub-types (4) Tagged with IKBKG-related immunodeficiency with or without ectodermal dysplasia (0)

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